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Biochemistry

Biochem review 3

QuestionAnswer
What is the main role of Glycolysis? Convert glucose into Pyruvate
Which biochemical process is in charge to convert Glucose into Pyruvate? Glycolysis
Which enzyme catalyzes the rate-limiting step of glycolysis? Phosphofructokinase-1 (PFK-1)
What compound or protein is known to inhabit PFK-1? Citrate
Which glycolysis enzyme is inhibited by Citrate? Phosphofructokinase-1
What are the abnormal serum level of Dopamine, NE, and Epinephrine in a patient with DHB deficiency? Increased level of Dopamine, and low levels of NE and Epinephrine
What is the physical consequence of increased levels of Dopamine, and low Epi and NE levels in patient with DHB deficiency? Hypotension
Is a person with with DHB deficiency seen with hypotension or hypertension? Hypotension
What are the clinical signs of Propionic acidemia? Seizures, poor feeding, hypotonia, and metabolic acidosis with increased anion gap
Is Propionic acidemia associated with anion gap or Non-anion gap metabolic acidemia? Anion gap metabolic acidemia
Which enzyme is deficient or absent in Propionic acidemia? Propionyl-CoA carboxylase
What is the diagnosis of a patient with absent Propionyl-CoA carboxylase? Propionic acidemia
Which substrates are elevated in Propionic acidemia? Propionic acid
Which products are decreased in Propionic acidemia? Methylmalonic acid
Which organic acidemia is associated with elevated levels of Propionic acid and low levels of Methylmalonic acid? Propionic acidemia
What is the mode of inheritance of Lesch-Nyhan syndrome? X-linked recessive
What are the main clinical characteristics of Lesch-Nyhan syndrome? Intellectual disability, self-mutilation, gout, and disordered movements
What enzyme is deficient in Lesch-Nyhan syndrome? HGPRT
What condition is associated with HGPRT deficiency? Lesch-Nyhan syndrome
Is HGPRT an enzyme of the purine or pyrimidine salvage pathway? Purine salvage pathway
Which joint-related condition is often seen as result of Lesch-Nyhan syndrome? Gout
What type of water soluble vitamin is seen in decreased amounts in Lesch-Nyhan syndrome patients? Vitamin B19 and/or Vitamin B12
Why are folate and cobalamin in low serum levels in patients with Lesh-Nyhan syndrome? Loss of purine salvage results in de novo synthesis and increase utilization of folate and/or vitamin B12
What type of anemia is expected in Lesch-Nyhan syndrome? Megaloblastic anemia
What is the most common histological finding of Lesch-Nyhan syndrome on blood smear? Hypersegmented neutrophils
Which adrenergic receptor is stimulated by NE to cause vasoconstriction? alpha-1 receptor
Which adrenergic receptors are stimulated by NE to increase stroke volume? beta-1 receptors
Which catecholamine is ideal to treat septic shock and prevent multiorgan failure? Norepinephrine
Which two adrenergic receptors are stimulated by NE, thus making it an excellent treatment for Septic Shock? alpha-1 and Beta-1 receptors
What is the common percent change of inheritance an autosomal dominant condition with one heterozygous parent and negative parent? 50%
What are the main clinical characteristics of Niemann-Pick disease? Cherry-red spot on macula, foamy macrophages, and significant hepatosplenomegaly.
Which enzyme is deficient in Niemann-Pick disease? Sphingomyelinase
Which lysosomal storage disorder is known to be deficient in Sphingomyelinase? Niemann-Pick disease
What is the main function of Sphingomyelinase? Convert sphingomyelin to ceramide
What are the main clinical features of Prader-Willi disease? Hypotonia at birth and later with intellectual disability, short stature, and obesity
Which gene is deleted in Prader -Willi disease? q12 gene on chromosome 15
Is Prader-Willi disease associated with Maternal or Paternal imprinting? Maternal imprinting
Which genes are deleted in Prader Willi disease, paternal or maternal? Paternal genes
Created by: rakomi
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